The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 65282DefinitionA syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.EpidemiologyOnly a few cases have been reported, all involving patients from Ecuador, India or Turkey.Clinical descriptionThe woolly hair is…

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Neuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Signs and symptoms of CLN10 usually appear soon after birth. They may include muscle stiffness, respiratory failure, and seizures that last several minutes (status epilepticus). Infants with CLN10 disease have a small brain and…

Lissencephaly 2 is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe…

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Long QT syndrome is a disorder of the heart’s electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). It can also be acquired (noninherited) and may be brought on by…

Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly pigmented) fungi. It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-spread infection.[1][2] Although the condition can affect anyone, it is most commonly diagnosed in people…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85186 Definition Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 180275 Definition Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 189439 Definition Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to…

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2471 Definition McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 293955 Definition Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria,…

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Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the iliac crests and metaphyses of long bones. The lesions…

Rosai-Dorfman disease was first described by Rosai and Dorfman in 1969.[1] It is a benign disease which is characterized by over-production and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body, most often those of the neck (cervical).[2] Other lymph node groups may also be involved and, in some cases, abnormal accumulation…

Chromosome 10q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 10. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often…

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Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra (duplicated) copy of genetic material on the long arm (q) of chromosome 13. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98772 Definition Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low…

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Myxoid liposarcoma is a subtype of liposarcoma, tumors that arise in the body’s fat tissue. Other categories of liposarcoma include well-differentiated; dedifferentiated; round cell; and pleomorphic.[1] Round cell and myxoid liposarcomas are sometimes grouped together into one category known as myxoid/round cell liposarcoma (MRCLS).[2] In adults, liposarcomas are the most common type of soft tissue…

Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is a type of cancer that most commonly affects the thyroid gland, but has been reported in the salivary gland as well.[1][2] Signs and symptoms include a painless neck mass.[2] Many people with mucoepidermoid carcinomas are women with Hashimoto’s thyroiditis.[1][3] The prevalence of SMECE is unknown, but only around…

Chromosome 5p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93974 Definition An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown. Since its initial…

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Postural orthostatic tachycardia syndrome (POTS) is a condition characterized by too little blood returning to the heart when moving from a lying down to a standing up position (orthostatic intolerance). Orthostatic Intolerance causes lightheadedness or fainting that can be eased by lying back down. In people with POTS, these symptoms are also accompanied by a…

Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.[1] The onset, severity and specific physical findings vary depending upon the specific type of NA present.[1] Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93403 Definition Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly. Epidemiology The prevalence is unknown. Clinical description In most cases, SPD affects…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 157820 Definition Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. Epidemiology So far, six cases have been reported of Norwegian, Israeli and…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3204 Definition Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait. Visit…

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Talipes equinovarus is a congenital (present from birth) condition where the foot turns inward and downward. The cause of this condition is not known, although it may be passed down through families in some cases. This condition occurs in about 1 out of every 1,000 births. Treatment may involve moving the foot into the correct…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2260 Definition Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of…

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Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult years. [1] In one study of 71 patients with ICE…

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Colpocephaly is a congenital brain abnormality in which the occipital horns the posterior or rear portion of the lateral ventricles (cavities) of the brain are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.[1]

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Undifferentiated connective tissue disease (UCTD) is an autoimmune disease that can affect several systems in the body. Connective tissue disease (CTD) is classified as undifferentiated CTD when signs and symptoms are consistent with a CTD, but do not fulfill the diagnostic or classification criteria for one of the previously defined CTDs (for example, rheumatoid arthritis or lupus).[1]…

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Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections (PANDAS) is a neurological and psychiatric condition in which symptoms are brought on or worsened by a Streptococcal (strep) infection. PANDAS is a subtype of pediatric acute-onset neuropsychiatric syndrome (PANS). Signs and symptoms of PANDAS align with current guidelines for diagnosing PANDAS, and include:[1] The presence of obsessive-compulsive disorder (OCD) and/or tics (uncontrolled,…

Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin.[1][2] Mutations in the PAX3 gene cause the symptoms observed in this condition.[1] Treatment is symptomatic and supportive.[2] Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.[1][2]

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Chromosome 1q duplications are chromosome abnormalies that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that may occur in people with chromosome…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85328 Definition X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280633 Definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent…

Congenital microcoria is a rare eye disorder affecting the development of the irises. It is characterized by absence or incomplete development of the iris dilator muscles (also called the pupil dilator muscles), making the pupils unable to dilate (widen).[1] People with congenital microcoria have small pupils (with a diameter less than 2 millimeters) that dilate…

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Fibrillary glomerulonephritis is an uncommon cause of glomerular disease. A more rare disorder known as immunotactoid glomerulpathy is a very similar condition. Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The diagnosis is made with a kidney biopsy and by electron microscopy. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be differentiated…

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Hunter-McAlpine syndrome is a very rare condition characterized by developmental delay, intellectual disability, and small head size (microcephaly). Sometimes the microcephaly results from early closure of the bones in the skull, which is called craniosynostosis. This can cause a misshapen skull and is common in individuals with Hunter-McAlpine syndrome; in fact another name for the…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2107 Definition Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit. Epidemiology Eight cases have been reported in the literature in two unrelated families. Clinical…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99642 Definition Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no…

Kyphoscoliotic Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera.[1][2] kyphoscoliosis EDS is caused by changes (mutations) in…

Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93346 Definition Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2316 Definition Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. Epidemiology So far, less than 30…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2663 Definition A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 36 Definition A polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Epidemiology The prevalence is not known but fewer than 50 cases of ACS…

Deafness-lymphedema-leukemia syndrome is a very rare genetic disorder characterized by swelling (lymphedema), a weak immune system (immunodeficiency), and blood disorders. Signs and symptoms may include congenital deafness, swelling of the legs and genitalia, a type of cancer known as acute myeloblastic leukemia, reduction of the blood cells (pancitopenia), scarring of the liver (cirrhosis), heart problems…

Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called the sternum does not form properly. The sternum usually connects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2098 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped…

Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79086 Definition A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of…

Diaphragmatic flutter is a disease in which there are repeated involuntary contractions of the diaphragm, the muscle that separates the heart and lungs from the abdomen. The abnormal flutter of the diaphragm affects the way the lungs can expand and contract during breathing.[1] Symptoms of diaphragmatic flutter may include difficulty breathing, abdominal pain, heart palpitations,…

Nager acrofacial dysostosis is a genetic disorder that affects the limbs and face. The signs and symptoms of Nager acrofacial dysostosis vary among affected individuals, even among those in the same family.[1][2] Treatment is tailored to the individual based upon their specific needs.[2] This condition is caused by mutations in the SF3B4 gene.[1] While most cases are…

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Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis.[1] It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of…

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Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have some degree of developmental delay (primarily speech delay), low muscle tone, poor feeding, and failure to thrive during infancy. In addition, many individuals display…

Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigue, and memory disturbances. It usually occurs in adults, and women are more commonly affected than men. Adiposis dolorosa is…

Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or…

X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178345 Definition A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with preor peripubertal onset of gynecomastia, premature growth…

GNAO1 encephalopathy is a rare neurologic disorder that causes developmental delay, early infantile seizures, and abnormal movements. Specific symptoms may include seizures that start early in childhood, severe intellectual disability, poor muscle tone (hypotonia), irregular muscle contractions (chorea), and involuntary movements of the face and tongue (dyskinesia).[1][2] The severity of symptoms can vary. Symptoms may be…

Agnosia is characterized by an inability to recognize and identify objects and/or persons. Symptoms may vary, according to the area of the brain that is affected.[1] It can be limited to one sensory modality such as vision or hearing; for example, a person may have difficulty in recognizing an object as a cup or identifying a…